Y113C (p.Tyr113Cys) variant of IFNGR1 (Interferon gamma receptor 1)
Y113C (p.Tyr113Cys) in IFNGR1 (Interferon gamma receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
Y113C (p.Tyr113Cys) variant details
- p.Tyr113Cys
- TOPMed rs1378351929
- gnomAD rs1378351929
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.53
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available